1. Panels
  2. Bilateral microtia
  3. GDF6
STRs in panel
Prev Next
Regions in panel
Prev Next

Bilateral microtia

Gene: GDF6

Red List (low evidence)
GDF6 (growth differentiation factor 6)
EnsemblGeneIds (GRCh38): ENSG00000156466
EnsemblGeneIds (GRCh37): ENSG00000156466
OMIM: 601147, Gene2Phenotype
GDF6 is in 11 panels

2 reviews

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#118100:Klippel-Feil syndrome 1, autosomal dominant [Facial asymmetry; Hearing loss, sensorineural; Hearing loss, conductive; Cleft palate; Short neck; Limited neck range of motion; Sprengel anomaly (); Fusion of cervical vertebrae, most often C2-3; Scoliosis; Low posterior hairline]; #613094:Microphthalmia, isolated 4 [; <omim version=1.0>; <clinicalSynopsisList>]; #613703:Microphthalmia with coloboma 6, digenic [; <omim version=1.0>; <clinicalSynopsisList>]; #615360:Leber congenital amaurosis 17 [Vision limited to detection of hand motion; Extinguished responses on electroretinography]

Publications

Created: 9 Feb 2016, 5:16 p.m.

Panel version: 1.0

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Created: 3 Feb 2016, 5:17 p.m.

Panel version: 0.0

History Filter Activity

4 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GDF6 was added to Bilateral Microtiapanel. Sources: Expert list